Linked Data
ClinVar Variation Id:
7815
dbSNP Id:
rs121909221
gnomAD v4:
10-87952135-T-A
ERepo:
CA000492/MONDO:0017623/003
PubMed:
PMID:9241266
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87952135T>A , CM000672.2:g.87952135T>A | GRCh38 |
| NC_000010.10:g.89711892T>A , CM000672.1:g.89711892T>A | GRCh37 |
| NC_000010.9:g.89701872T>A | NCBI36 |
| NG_007466.2:g.93697T>A , LRG_311:g.93697T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.510T>A | ENSP00000514759.2:p.Ser170Arg | |
| ENST00000710265.1:c.510T>A | ENSP00000518161.1:p.Ser170Arg | |
| ENST00000472832.3:c.510T>A | ENSP00000483066.2:p.Ser170Arg | |
| ENST00000688158.2:n.1245T>A | ||
| ENST00000688922.2:c.*340T>A | ENSP00000508742.2:n.*340T>A | |
| ENST00000700021.1:c.465T>A | ENSP00000514757.1:p.Ser155Arg | |
| ENST00000700022.1:c.493-5718T>A | ENSP00000514758.1:n.493-5718T>A | |
| ENST00000700023.1:n.1668T>A | ||
| ENST00000700024.1:n.1902T>A | ||
| ENST00000700025.1:n.1279T>A | ||
| ENST00000700029.1:c.344T>A | ||
| ENST00000706954.1:c.510T>A | ENSP00000516674.1:p.Ser170Arg | |
| ENST00000706955.1:c.*545T>A | ENSP00000516675.1:n.*545T>A | |
| ENST00000686459.1:c.*96T>A | ENSP00000508909.1:n.*96T>A | |
| ENST00000688158.1:c.*621T>A | ENSP00000509254.1:n.*621T>A | |
| ENST00000688308.1:c.510T>A | ENSP00000508752.1:p.Ser170Arg | |
| ENST00000688922.1:c.431T>A | ||
| ENST00000693560.1:c.1029T>A | ENSP00000509861.1:p.Ser343Arg | |
| ENST00000371953.8:c.510T>A MANE Select | ENSP00000361021.3:p.Ser170Arg | |
| ENST00000371953.7:c.510T>A | ENSP00000361021.3:p.Ser170Arg | |
| NM_000314.5:c.510T>A | NP_000305.3:p.Ser170Arg | |
| NM_000314.6:c.510T>A | NP_000305.3:p.Ser170Arg | |
| NM_001304717.2:c.1029T>A | NP_001291646.2:p.Ser343Arg | |
| NM_001304718.1:c.-82T>A | NP_001291647.1:n.-82T>A | |
| XM_006717926.2:c.465T>A | XP_006717989.1:p.Ser155Arg | |
| XM_011539981.1:c.510T>A | XP_011538283.1:p.Ser170Arg | |
| XM_011539982.1:c.414T>A | XP_011538284.1:p.Ser138Arg | |
| XR_945789.1:n.1381T>A | ||
| XR_945790.1:n.1498T>A | ||
| XR_945791.1:n.1205-5718T>A | ||
| NM_000314.7:c.510T>A | NP_000305.3:p.Ser170Arg | |
| NM_001304717.5:c.1029T>A | NP_001291646.4:p.Ser343Arg | |
| NM_001304718.2:c.-82T>A | NP_001291647.1:n.-82T>A | |
| NM_000314.8:c.510T>A MANE Select | NP_000305.3:p.Ser170Arg |